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1997 2
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Page 1
The molecular genetics of haemochromatosis.
Le Gac G, Férec C. Le Gac G, et al. Eur J Hum Genet. 2005 Nov;13(11):1172-85. doi: 10.1038/sj.ejhg.5201490. Eur J Hum Genet. 2005. PMID: 16132052 Review.
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS. Waheed A, et al. Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12384-9. doi: 10.1073/pnas.94.23.12384. Proc Natl Acad Sci U S A. 1997. PMID: 9356458 Free PMC article.
The hemochromatosis protein HFE inhibits iron export from macrophages.
Drakesmith H, Sweetland E, Schimanski L, Edwards J, Cowley D, Ashraf M, Bastin J, Townsend AR. Drakesmith H, et al. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15602-7. doi: 10.1073/pnas.242614699. Epub 2002 Nov 12. Proc Natl Acad Sci U S A. 2002. PMID: 12429850 Free PMC article.
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
Tomatsu S, Orii KO, Fleming RE, Holden CC, Waheed A, Britton RS, Gutierrez MA, Velez-Castrillon S, Bacon BR, Sly WS. Tomatsu S, et al. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15788-93. doi: 10.1073/pnas.2237037100. Epub 2003 Dec 12. Proc Natl Acad Sci U S A. 2003. PMID: 14673107 Free PMC article.